Case8: Male, Iraq, age not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421, HP:0000225, HP:0031364, HP:0030137, HP:0002573

(Epistaxis, gingival bleeding, ecchymosis, prolonged bleeding following circumcision, rectal bleeding)

CaseHPOFreeText: Haemarthrosis, retro-peritoneal bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGB3

Variant: NM_000212.2:c.2031_2041del (p.Asp677Glufs)

LegacyVariant: (p.Asp651Glufs*3)

ClinVar: N/A

CAiD: CA915940605

gnomAD: N/A

Case11: Female, Iraq, age not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421, HP:0000225, HP:0000132, HP:0031364, HP:0002249

(Epistaxis, gingival bleeding, menorrhagia, ecchymosis, melena)

CaseHPOFreeText: Colon angiodysplasia, retroperitoneal, haematuria, haemarthrosis

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGB3

Variant: NM_000212.2:c.2031_2041del (p.Asp677Glufs)

LegacyVariant: (p.Asp651Glufs*3)

ClinVar: N/A

CAiD: CA915940605

gnomAD: N/A

Case21: Male, Iraq, age not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGB3

Variant: NM_000212.2:c.2031_2041del (p.Asp677Glufs)

LegacyVariant: (p.Asp651Glufs*3)

ClinVar: N/A

CAiD: CA915940605

gnomAD: N/A

Case2: Female, Iraq, age not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421, HP:0000225, HP:0000132, HP:0002249

(Epistaxis, gingival bleeding, menorrhagia, melena)

CaseHPOFreeText: Petechial rash, post-partum bleeding, colon angiodysplasia, haematemesis

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGB3

Variant: NM_000212.2:c.2031_2041del (p.Asp677Glufs)

LegacyVariant: (p.Asp651Glufs*3)

ClinVar: N/A

CAiD: CA915940605

gnomAD: N/A

Case9: Male, Iraq, age not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421, HP:0000225, HP:0031364, HP:0030137, HP:0002573

(Epistaxis, gingival bleeding, ecchymosis, prolonged bleeding following circumcision, rectal bleeding)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGB3

Variant: NM_000212.2:c.2031_2041del (p.Asp677Glufs)

LegacyVariant: (p.Asp651Glufs*3)

ClinVar: N/A

CAiD: CA915940605

gnomAD: N/A

Case39: Patient IJ13

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000979 Purpura

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: <2% GPIIIa and GPIIb expression

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGB3

Variant: NM_000212.2:c.2031_2041del and another variant

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940605

gnomAD: N/A

PreviouslyPublished: Reference 62

Case38: Patient IJ12

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0000421, HP:0000225, HP:0002239, HP:0000979, HP:0000967, HP:0006298

(Epistaxis, gingival bleeding, GI bleeding, purpura/petechiae, prolonged bleeding after tooth extraction)

CaseNotHPOsFreeText: N/A

ProteinExpression: <2% GPIIIa and GPIIb surface expression

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGB3

Variant: NM_000212.2:c.2031_2041del

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940605

gnomAD: N/A

PreviouslyPublished: References 8-12

Case2: 9 years old, Female, Jewish Iraqi

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0004406

(Recurrent epistaxis)

CaseHPOFreeText: Mucocutaneous bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: All patients demonstrated lack of αIIbβ3 surface expression." No specifics are given on the percentage, but test was performed

PlateletAggregation: Presented with mucocutaneous bleeding, absence of platelet aggregation in response to all physiological agonists in contrast to normal aggregation with ristocetin

CasePreviousTesting: "Molecular analysis disclosed that patient 2 was homozygous for an out of frame mutation (c.2031–2041 del, exon 13) in ITGB3, and patient 4 was compound heterozygote for the same deletion and a large deletion of 11.2Kb del"

Gene: ITGB3

Variant: NM_000212.2:c.2031_2041del (p.Asp677Glufs) and 11.2Kb del (IVS9aluc.2183–6)

LegacyVariant: N/A

ClinVar: N/A and 13563

CAiD: CA915940605 and NA

gnomAD: N/A